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What causes ocular albinism type 1?

Ocular albinism type 1 is caused by mutations in the GPR143gene.[1] This gene provides instructions for making a protein that plays a role in pigmentation (coloring) of the eyes and skin. It helps control the growth of melanosomes, which are structures inside the cells that make and store a pigment called melanin. Melanin also plays a role in vision in the retina. Mutations in the GPR143 gene can affect the protein's ability to do its job. As a result, melanosomes in skin and retinal cell can grow abnormally large, contributing to the signs and symptoms of the condition.[2]